Update on genetics and diabetic retinopathy

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Abstract

Clinical risk factors for diabetic retinopathy (DR), such as duration of disease and degree of glucose control, do not adequately predict disease progression in individual patients, suggesting the presence of a genetic component. Multiple smaller studies have investigated genotype–phenotype correlations in genes encoding vascular endothelial growth factor, aldose reductase, the receptor for advanced glycation end products, and many others. In general, reported results have been conflicting, due to factors including small sample sizes, variations in study design, differences in clinical end points, and underlying genetic differences between study groups. At this time, there is no confirmed association with any risk allele reported. As we continue to collect data from additional studies, the role of genetics in DR may become more apparent.

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Diabetic retinopathy in a multi-ethnic cohort in the United States.

Tien Yin Wong, Ronald Klein, F M Amirul Islam … (2006)

To describe the prevalence and risk factors of diabetic retinopathy in a multi-ethnic US population of whites, blacks, hispanics, and chinese. Cross-sectional study of 778 individuals from ages 45 to 85 years with diabetes, participating in the Multi-Ethnic Study of Atherosclerosis (MESA). Retinal photographs were obtained with a 45 degrees nonmydriatic digital fundus camera. Presence and severity of diabetic retinopathy were graded at a central reading center on the basis of a modification of the Airlie House classification system. All participants underwent a standardized interview, examination, and laboratory investigations. In this population with diabetes, the prevalence of any retinopathy was 33.2% and macular edema 9.0%. The prevalence of any diabetic retinopathy and macular edema was significantly higher in blacks (36.7% and 11.1%) and hispanics (37.4% and 10.7%) than in whites (24.8% and 2.7%) and chinese (25.7% and 8.9%) (P = .01 and P = .007, comparing racial/ethnic differences for retinopathy and macular edema, respectively). Significant independent predictors of any retinopathy were longer duration of diabetes, higher fasting serum glucose, use of diabetic oral medication or insulin, and greater waist-hip ratio. Race was not an independent predictor of any retinopathy. This study provides contemporary data on the prevalence of and risk factors for diabetic retinopathy among whites, blacks, hispanics, and chinese participating in the MESA.

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Prevalence of diabetic retinopathy in Type 2 diabetes in developing and developed countries.

L Ruta, D J Magliano, R Lemesurier … (2013)

As the global prevalence of diabetes increases, so will the numbers of people with diabetic retinopathy. Our review aimed to provide a comprehensive picture of available studies of diabetic retinopathy and how prevalence varies around the developed and developing world.

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Photoreceptor proteins initiate microglial activation via Toll-like receptor 4 in retinal degeneration mediated by all-trans-retinal.

Brian M. Kevany, Yu Chen, Masaru Miyagi … (2013)

Although several genetic and biochemical factors are associated with the pathogenesis of retinal degeneration, it has yet to be determined how these different impairments can cause similar degenerative phenotypes. Here, we report microglial/macrophage activation in both a Stargardt disease and age-related macular degeneration mouse model caused by delayed clearance of all-trans-retinal from the retina, and in a retinitis pigmentosa mouse model with impaired retinal pigment epithelium (RPE) phagocytosis. Mouse microglia displayed RPE cytotoxicity and increased production of inflammatory chemokines/cytokines, Ccl2, Il1b, and Tnf, after coincubation with ligands that activate innate immunity. Notably, phagocytosis of photoreceptor proteins increased the activation of microglia/macrophages and RPE cells isolated from model mice as well as wild-type mice. The mRNA levels of Tlr2 and Tlr4, which can recognize proteins as their ligands, were elevated in mice with retinal degeneration. Bone marrow-derived macrophages from Tlr4-deficient mice did not increase Ccl2 after coincubation with photoreceptor proteins. Tlr4(-/-)Abca4(-/-)Rdh8(-/-) mice displayed milder retinal degenerative phenotypes than Abca4(-/-)Rdh8(-/-) mice. Additionally, inactivation of microglia/macrophages by pharmacological approaches attenuated mouse retinal degeneration. This study demonstrates an important contribution of TLR4-mediated microglial activation by endogenous photoreceptor proteins in retinal inflammation that aggravates retinal cell death. This pathway is likely to represent an underlying common pathology in degenerative retinal disorders.

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Author and article information

Journal

Journal ID (nlm-ta): Clin Ophthalmol

Journal ID (iso-abbrev): Clin Ophthalmol

Journal ID (publisher-id): Clinical Ophthalmology

Title: Clinical Ophthalmology (Auckland, N.Z.)

Publisher: Dove Medical Press

ISSN (Print): 1177-5467

ISSN (Electronic): 1177-5483

Publication date Collection: 2015

Publication date (Electronic): 23 November 2015

Volume: 9

Pages: 2175-2193

Affiliations

[1 ]Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA

[2 ]Department of Ophthalmology, Vanderbilt Eye Institute, Nashville, TN, USA

Author notes

Correspondence: Stephen G Schwartz, Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 3880 Tamiami Trail North, Naples, FL 34103, USA, Tel +1 239 659 3937, Fax +1 239 659 3984, Email sschwartz2@ 123456med.miami.edu

Article

Publisher ID: opth-9-2175

DOI: 10.2147/OPTH.S94508

PMC ID: 4664538

PubMed ID: 26648684

SO-VID: 2420c7fc-d3ce-4b29-a922-248f7a57e39f

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The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

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Update on genetics and diabetic retinopathy

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Karger: Ophthalmology

Most cited references 114

Diabetic retinopathy in a multi-ethnic cohort in the United States.

Prevalence of diabetic retinopathy in Type 2 diabetes in developing and developed countries.

Photoreceptor proteins initiate microglial activation via Toll-like receptor 4 in retinal degeneration mediated by all-trans-retinal.

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